علاج داء الجليكوجين النوع الثاني في داء بومبيه ذو البداية المتأخرة مع الاعتلال العضلي القرباني

References

DOI: 10.1186/s13023-024-03373-w

• Patients may present at any age, but mostly after the age of 1 year during childhood or adulthood.
• They usually present with proximal (limb girdle) myopathy leading to progressive motor disability (more closely related to disease duration than to the age of the patient), with waddling gait, mostly without cardiac involvement.
• The licensed dose of Alglucosidase alfa is 20 mg/kg body weight, every other week, by intravenous infusion.
• It has been advised that adult Pompe patients should consume 1.2–1.4 g/kg protein per day, which is above the intake recommended for the general population (0.8–1.0 g/kg).
• Alglucosidase alfa treatment improves motor (6-min-walk test, 6-MWT) and respiratory function (forced vital capacity, FVC).